Gene: STK11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690950
rs1131690950
STK11
A 0.700 CausalMutation CLINVAR Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. 26607058

2015
dbSNP: rs730881972
rs730881972
STK11
C 0.700 GeneticVariation CLINVAR Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome. 26225618

2015
dbSNP: rs1131690935
rs1131690935
STK11
A 0.700 GeneticVariation CLINVAR STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome. 24652667

2014
dbSNP: rs137853079
rs137853079
STK11
G 0.700 CausalMutation CLINVAR Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome. 24604241

2014
dbSNP: rs778376925
rs778376925
STK11
G 0.700 CausalMutation CLINVAR Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome. 24604241

2014
dbSNP: rs1131690916
rs1131690916
STK11
T 0.700 GeneticVariation CLINVAR Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 23415580

2013
dbSNP: rs1131690935
rs1131690935
STK11
A 0.700 GeneticVariation CLINVAR Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 23415580

2013
dbSNP: rs121913315
rs121913315
STK11
A 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs121913315
rs121913315
STK11
A 0.700 GeneticVariation CLINVAR High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome. 23718779

2013
dbSNP: rs730881973
rs730881973
STK11
G 0.700 CausalMutation CLINVAR Insights into the phosphoryl transfer catalyzed by cAMP-dependent protein kinase: an X-ray crystallographic study of complexes with various metals and peptide substrate SP20. 23672593

2013
dbSNP: rs730881976
rs730881976
STK11
G 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs886037859
rs886037859
STK11
G 0.700 CausalMutation CLINVAR Insights into the phosphoryl transfer catalyzed by cAMP-dependent protein kinase: an X-ray crystallographic study of complexes with various metals and peptide substrate SP20. 23672593

2013
dbSNP: rs1131690935
rs1131690935
STK11
A 0.700 GeneticVariation CLINVAR Predicting the functional effect of amino acid substitutions and indels. 23056405

2012
dbSNP: rs1131690947
rs1131690947
STK11
A 0.700 CausalMutation CLINVAR High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. 21118512

2010
dbSNP: rs730881972
rs730881972
STK11
C 0.700 GeneticVariation CLINVAR An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome. 19952941

2010
dbSNP: rs886039554
rs886039554
STK11
T 0.700 GeneticVariation CLINVAR High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. 21118512

2010
dbSNP: rs1131690916
rs1131690916
STK11
T 0.700 GeneticVariation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs1131690935
rs1131690935
STK11
A 0.700 GeneticVariation CLINVAR Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. 19908348

2009
dbSNP: rs376280361
rs376280361
STK11
C 0.700 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs730881973
rs730881973
STK11
G 0.700 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs886037859
rs886037859
STK11
G 0.700 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs1131690935
rs1131690935
STK11
A 0.700 GeneticVariation CLINVAR SIRT1 modulation of the acetylation status, cytosolic localization, and activity of LKB1. Possible role in AMP-activated protein kinase activation. 18687677

2008
dbSNP: rs1131690951
rs1131690951
STK11
G 0.700 CausalMutation CLINVAR Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. 17404884

2007
dbSNP: rs137853076
rs137853076
STK11
T 0.700 CausalMutation CLINVAR Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. 17404884

2007
dbSNP: rs397518440
rs397518440
STK11
G 0.700 CausalMutation CLINVAR Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. 17924967

2007